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Polycystic liver disease 1(PCLD1)

MedGen UID:
165781
Concept ID:
C0887850
Congenital Abnormality; Disease or Syndrome
Synonyms: PCLD1; POLYCYSTIC LIVER DISEASE 1 WITH OR WITHOUT KIDNEY CYSTS
SNOMED CT: Adult type polycystic kidney disease type 1 (253878003); APKD - Adult type polycystic disease (253878003); PKD1 - Polycystic kidney disease 1 (253878003); Autosomal dominant polycystic kidney disease type 1 (253878003)
 
Gene (location): PRKCSH (19p13.2)
 
Monarch Initiative: MONDO:0008265
OMIM®: 174050

Definition

Polycystic liver disease-1 is an autosomal dominant condition characterized by the presence of multiple liver cysts of biliary epithelial origin. Although the clinical presentation and histologic features of polycystic liver disease in the presence or absence of autosomal dominant polycystic kidney disease (see, e.g., PKD1, 173900) are indistinguishable, PCLD1 is a genetically distinct form of isolated polycystic liver disease (summary by Reynolds et al., 2000). A subset of patients (28-35%) may develop kidney cysts that are usually incidental findings and do not result in clinically significant renal disease (review by Cnossen and Drenth, 2014). Genetic Heterogeneity of Polycystic Liver Disease See also PCLD2 (617004), caused by mutation in the SEC63 gene (608648) on chromosome 6q21; PCLD3 (617874), caused by mutation in the ALG8 gene (608103) on chromosome 11p; and PCLD4 (617875), causes by mutation in the LRP5 gene (603506) on chromosome 11q13. [from OMIM]

Clinical features

From HPO
Back pain
MedGen UID:
2530
Concept ID:
C0004604
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.
Renal cyst
MedGen UID:
854361
Concept ID:
C3887499
Disease or Syndrome
A fluid filled sac in the kidney.
Abnormality of the cardiovascular system
MedGen UID:
116727
Concept ID:
C0243050
Congenital Abnormality
Any abnormality of the cardiovascular system.
Abdominal distention
MedGen UID:
34
Concept ID:
C0000731
Finding
Distention of the abdomen.
Ascites
MedGen UID:
416
Concept ID:
C0003962
Disease or Syndrome
Accumulation of fluid in the peritoneal cavity.
Autosomal dominant polycystic liver disease
MedGen UID:
56388
Concept ID:
C0158683
Disease or Syndrome
Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD).
Abnormality of the nervous system
MedGen UID:
105425
Concept ID:
C0497552
Congenital Abnormality
An abnormality of the nervous system.
Dyspnea
MedGen UID:
3938
Concept ID:
C0013404
Sign or Symptom
Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.
Increased total bilirubin
MedGen UID:
152856
Concept ID:
C0741494
Finding
Increased concentration of total (conjugated and unconjugated) bilirubin in the blood.
Elevated circulating alkaline phosphatase concentration
MedGen UID:
727252
Concept ID:
C1314665
Finding
Abnormally increased serum levels of alkaline phosphatase activity.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPolycystic liver disease 1

Professional guidelines

PubMed

Nault JC, Blanc JF, Moga L, Calderaro J, Dao T, Guiu B, Hocquelet A, Paradis V, Salamé E, de Lédinghen V, Bourlière M, Bureau C, Ganne-Carrié N
Clin Res Hepatol Gastroenterol 2022 Jan;46(1):101765. Epub 2021 Jul 29 doi: 10.1016/j.clinre.2021.101765. PMID: 34333196
Ferrer Inaebnit E, Molina Romero FX, Segura Sampedro JJ, González Argenté X, Morón Canis JM
Rev Esp Enferm Dig 2022 Jan;114(1):35-41. doi: 10.17235/reed.2021.7896/2021. PMID: 34034501
van Aerts RMM, van de Laarschot LFM, Banales JM, Drenth JPH
J Hepatol 2018 Apr;68(4):827-837. Epub 2017 Nov 24 doi: 10.1016/j.jhep.2017.11.024. PMID: 29175241

Recent clinical studies

Etiology

Horton KM, Post WS, Blumenthal RS, Fishman EK
Circulation 2002 Jul 30;106(5):532-4. doi: 10.1161/01.cir.0000027136.56615.de. PMID: 12147531

Diagnosis

Horton KM, Post WS, Blumenthal RS, Fishman EK
Circulation 2002 Jul 30;106(5):532-4. doi: 10.1161/01.cir.0000027136.56615.de. PMID: 12147531

Prognosis

Horton KM, Post WS, Blumenthal RS, Fishman EK
Circulation 2002 Jul 30;106(5):532-4. doi: 10.1161/01.cir.0000027136.56615.de. PMID: 12147531

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